Linked Data
ClinVar Variation Id:
1633678
ClinVar RCV Id:
RCV002130466
dbSNP Id:
rs1166079989
gnomAD v2:
7-100224455-C-A
gnomAD v4:
7-100626832-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100626832C>A , CM000669.2:g.100626832C>A | GRCh38 |
| NC_000007.13:g.100224455C>A , CM000669.1:g.100224455C>A | GRCh37 |
| NC_000007.12:g.100062391C>A | NCBI36 |
| NG_007989.1:g.19719G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223051.8:c.2067G>T MANE Select | ENSP00000223051.3:p.Arg689= | |
| ENST00000223051.7:c.2067G>T | ENSP00000223051.3:p.Arg689= | |
| ENST00000431692.5:c.*742G>T | ENSP00000413905.1:n.*742G>T | |
| ENST00000461176.1:n.413G>T | ||
| ENST00000462090.5:n.1103G>T | ||
| ENST00000462107.1:c.2067G>T | ENSP00000420525.1:p.Arg689= | |
| ENST00000465294.5:n.1987G>T | ||
| ENST00000476304.5:n.1688G>T | ||
| ENST00000490084.5:c.1420G>T | ||
| NM_001206855.1:c.1554G>T | NP_001193784.1:p.Arg518= | |
| NM_003227.3:c.2067G>T | NP_003218.2:p.Arg689= | |
| XM_005250553.3:c.2067G>T | XP_005250610.1:p.Arg689= | |
| XM_005250554.3:c.2067G>T | XP_005250611.1:p.Arg689= | |
| XR_927814.1:n.433+4278C>A | ||
| NM_001206855.2:c.1554G>T | NP_001193784.1:p.Arg518= | |
| XM_005250553.4:c.2067G>T | XP_005250610.1:p.Arg689= | |
| XM_017012573.1:c.2067G>T | XP_016868062.1:p.Arg689= | |
| NM_003227.4:c.2067G>T MANE Select | NP_003218.2:p.Arg689= | |
| NM_001206855.3:c.1554G>T | NP_001193784.1:p.Arg518= |